PubRank

Luca Persani

Author PubWeight™ 79.34‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Persistent cAMP-signals triggered by internalized G-protein-coupled receptors. PLoS Biol 2009 2.59
2 Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. J Clin Endocrinol Metab 2006 1.81
3 Premature ovarian failure. Orphanet J Rare Dis 2006 1.75
4 Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet 2004 1.72
5 Luteinizing hormone signaling in preovulatory follicles involves early activation of the epidermal growth factor receptor pathway. Mol Endocrinol 2008 1.71
6 Signaling by internalized G-protein-coupled receptors. Trends Pharmacol Sci 2010 1.70
7 Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 2002 1.68
8 A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol (Oxf) 2009 1.45
9 Role of GPR30 in testicular germ cell tumors: a potential new anticancer target. Cancer Biol Ther 2011 1.43
10 X chromosome monosomy: a common mechanism for autoimmune diseases. J Immunol 2005 1.41
11 Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab 2007 1.41
12 Pituitary tumours: TSH-secreting adenomas. Best Pract Res Clin Endocrinol Metab 2009 1.35
13 Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet 2012 1.34
14 Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance. Hum Mol Genet 2005 1.30
15 An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 2003 1.23
16 A novel mutation in the bone morphogenetic protein 15 gene causing defective protein secretion is associated with both increased ovulation rate and sterility in Lacaune sheep. Endocrinology 2006 1.22
17 Activator protein-1 and smad proteins synergistically regulate human follicle-stimulating hormone beta-promoter activity. Endocrinology 2008 1.19
18 Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 2002 1.16
19 Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. Hum Mutat 2005 1.14
20 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. PLoS Genet 2013 1.12
21 PI3K/Akt/mTOR signaling in medullary thyroid cancer: a promising molecular target for cancer therapy. Endocrine 2014 1.06
22 A family with complete resistance to thyrotropin-releasing hormone. N Engl J Med 2009 1.05
23 Structural differences in the hinge region of the glycoprotein hormone receptors: evidence from the sulfated tyrosine residues. Mol Endocrinol 2006 1.04
24 Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes. Eur J Endocrinol 2010 1.04
25 Regulation of ovulation rate in mammals: contribution of sheep genetic models. Reprod Biol Endocrinol 2006 1.03
26 Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis. Best Pract Res Clin Endocrinol Metab 2006 1.03
27 Different responses to chronic somatostatin analogues in patients with central hyperthyroidism. Clin Endocrinol (Oxf) 2005 1.02
28 BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Hum Mutat 2009 1.00
29 Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. J Clin Endocrinol Metab 2014 0.97
30 New understandings of the genetic basis of isolated idiopathic central hypogonadism. Asian J Androl 2011 0.96
31 Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyperprolificacy phenotype in sheep. PLoS Genet 2013 0.96
32 X monosomy in female systemic lupus erythematosus. Ann N Y Acad Sci 2007 0.95
33 8-Chloro-cyclic AMP and protein kinase A I-selective cyclic AMP analogs inhibit cancer cell growth through different mechanisms. PLoS One 2011 0.94
34 TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. J Mol Med (Berl) 2006 0.92
35 Central hypothyroidism. Pituitary 2008 0.92
36 Selective modulation of protein kinase A I and II reveals distinct roles in thyroid cell gene expression and growth. Mol Endocrinol 2006 0.92
37 DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients. Eur J Endocrinol 2006 0.91
38 Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity. Cell Physiol Biochem 2006 0.89
39 Medical management of thyrotropin-secreting pituitary adenomas. Pituitary 2002 0.89
40 Sortilin is a putative postendocytic receptor of thyroglobulin. Endocrinology 2008 0.88
41 Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation. J Clin Endocrinol Metab 2013 0.88
42 Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome. Cell Physiol Biochem 2006 0.88
43 Metabolic syndrome induces inflammation and impairs gonadotropin-releasing hormone neurons in the preoptic area of the hypothalamus in rabbits. Mol Cell Endocrinol 2013 0.85
44 The expression of wild-type pendrin (SLC26A4) in human embryonic kidney (HEK 293 Phoenix) cells leads to the activation of cationic currents. Eur J Endocrinol 2005 0.85
45 Type I interferons: ancient peptides with still under-discovered anti-cancer properties. Protein Pept Lett 2013 0.85
46 Short- and long- term effects of cigarette smoke exposure on glutathione homeostasis in human bronchial epithelial cells. Cell Physiol Biochem 2013 0.85
47 Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy. Eur J Nucl Med Mol Imaging 2007 0.84
48 Isolated follicle-stimulating hormone (FSH) deficiency in a young man with normal virilization who did not have mutations in the FSHbeta gene. Fertil Steril 2003 0.84
49 Combined treatment with PPAR-γ agonists in pancreatic cancer: a glimmer of hope for cancer therapy? Curr Cancer Drug Targets 2013 0.84
50 Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss. Mol Cell Endocrinol 2012 0.83
51 Difficult treatment of consumptive hypothyroidism in a child with massive parotid hemangioma. J Pediatr Endocrinol Metab 2012 0.83
52 MEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly. Eur J Endocrinol 2012 0.83
53 Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia. J Clin Endocrinol Metab 2011 0.82
54 Zebrafish as an innovative model for neuroendocrine tumors. Endocr Relat Cancer 2014 0.82
55 Oxytocin-induced cell growth proliferation in human myometrial cells and leiomyomas. Fertil Steril 2010 0.82
56 Elastographic presentation of medullary thyroid carcinoma. Endocrine 2013 0.82
57 Blood cell mitochondrial DNA content and premature ovarian aging. PLoS One 2012 0.82
58 An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma. Endocr Relat Cancer 2006 0.81
59 Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid 2014 0.81
60 Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro. Eur J Endocrinol 2010 0.81
61 Disruptions of global and JAGGED1-mediated notch signaling affect thyroid morphogenesis in the zebrafish. Endocrinology 2012 0.80
62 RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series. Clin Endocrinol (Oxf) 2008 0.80
63 Elastographic techniques of thyroid gland: current status. Endocrine 2014 0.79
64 Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas. J Clin Invest 2016 0.79
65 SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case. BMC Med Genet 2011 0.79
66 Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacement. Clin Endocrinol (Oxf) 2003 0.79
67 Safety of medications and hormones used in the treatment of pediatric thyroid disorders. Pediatr Endocrinol Rev 2004 0.79
68 Somatic mutational analysis of DAX1 in testes from men with idiopathic azoospermia. Fertil Steril 2005 0.78
69 Wasting syndrome with deep bradycardia as presenting manifestation of long-standing severe male hypogonadotropic hypogonadism: a case series. BMC Endocr Disord 2014 0.78
70 Positive selection in bone morphogenetic protein 15 targets a natural mutation associated with primary ovarian insufficiency in human. PLoS One 2013 0.77
71 Thyrotropinomas. Endocrinol Metab Clin North Am 2008 0.77
72 A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. Hum Reprod 2009 0.77
73 Refining calcium test for the diagnosis of medullary thyroid cancer: cutoffs, procedures, and safety. J Clin Endocrinol Metab 2014 0.77
74 Prolactin and proinflammatory cytokine expression at the fetomaternal interface in first trimester miscarriage. Fertil Steril 2013 0.77
75 Highly sensitive serum thyroglobulin and circulating thyroglobulin mRNA evaluations in the management of patients with differentiated thyroid cancer in apparent remission. J Clin Endocrinol Metab 2002 0.76
76 Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome. Hum Reprod 2013 0.76
77 Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways. J Clin Endocrinol Metab 2013 0.76
78 Total iodide organification defect: clinical and molecular characterization of an Italian family. Thyroid 2005 0.75
79 A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup. BMJ Case Rep 2012 0.75
80 The zebrafish: an emerging animal model for investigating the hypothalamic regulation of reproduction. Minerva Endocrinol 2016 0.75
81 Elastographic presentation of synchronous renal cell carcinoma metastasis to the thyroid gland. Endocrine 2013 0.75
82 Modern methods to investigate the oligomerization of glycoprotein hormone receptors (TSHR, LHR, FSHR). Methods Enzymol 2013 0.75
83 Absence of sonic hedgehog (Shh) germline mutations in patients with thyroid dysgenesis. Clin Endocrinol (Oxf) 2008 0.75
84 The complex genetic basis of congenital hypogonadotropic hypogonadism. Minerva Endocrinol 2016 0.75
85 Endocrine models of the zebrafish. Editorial. Mol Cell Endocrinol 2009 0.75
86 Lateralization of calcitonin measurements in the wash-out fluid from thyroid fine-needle aspiration: a useful tool for the diagnosis of C-cell-hyperplasia? Thyroid 2011 0.75
87 TSH-induced hyperthyroidism caused by a pituitary tumor. Nat Clin Pract Endocrinol Metab 2006 0.75